AutismKB 2.0

Evidence Details for KIAA1530


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KIAA1530 ( MGC117169 )
Gene Full Name: KIAA1530
Band: 4p16.3
Quick LinksEntrez ID:57654; OMIM: NA; Uniprot ID:K1530_HUMAN; ENSEMBL ID: ENSG00000163945; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1530|57654|nucleotide
ATGGATCAGAAACTTTCGAAGTTGGTAGAAGAGCTCACAACTTCAGGAGAACCCCGACTAAATCCTGAGAAAATGAAGGAACTGAAGAAAATTTGCAAGTCTTCA
GAGGAGCAGCTGAGCCGCGCCTACCGCCTGCTGATAGCACAGCTGACCCAGGAGCACGCCGAGATCCGTCTCTCAGCCTTCCAGATTGTGGAGGAACTCTTCGTC
AGGTCTCACCAGTTCCGGATGCTGGTTGTTTCCAACTTCCAGGAGTTCCTGGAGCTCACGCTGGGCACAGACCCCGCACAGCCTCTGCCGCCCCCCAGGGAGGCG
GCACAGAGGCTGAGGCAGGCGACCACCCGGGCCGTGGAAGGGTGGAATGAGAAGTTTGGGGAGGCCTACAAGAAGCTTGCCTTGGGCTACCACTTCTTAAGACAC
AACAAAAAGGTGGATTTTCAAGACACGAATGCTCGGAGTCTGGCAGAAAGGAAGAGAGAAGAGGAGAAGCAGAAGCACTTGGATAAAATTTATCAAGAAAGAGCC
AGCCAGGCGGAGAGGGAGATGCAAGAAATGTCTGGAGAAATTGAATCCTGCTTGACGGAGGTAGAGAGCTGCTTTAGGCTGCTGGTGCCTTTTGACTTTGACCCG
AACCCGGAGACGGAATCCCTTGGCATGGCTTCTGGCATGTCCGATGCCCTTCGCTCCTCCTGCGCGGGCCAGGTGGGCCCCTGCCGGTCTGGCACCCCTGACCCC
CGGGACGGGGAGCAGCCCTGCTGCAGTAGAGACCTGCCTGCCTCTGCAGGCCACCCCAGAGCGGGCGGCGGGGCACAGCCATCCCAGACAGCCACAGGTGACCCC
TCAGATGAGGACGAGGACAGCGACCTCGAGGAGTTTGTGCGGAGCCACGGGCTGGGCTCGCACAAGTACACGCTGGATGTGGAGCTCTGCTCAGAGGGCCTGAAG
GTGCAGGAGAACGAGGACAACCTTGCTCTCATCCACGCCGCCCGCGACACACTCAAGCTCATCCGGAACAAGTTCCTGCCGGCTGTGTGCTCGTGGATCCAGCGC
TTCACCCGCGTCGGGACCCACGGTGGATGTTTAAAGCGTGCCATTGACCTGAAGGCTGAATTGGAGCTCGTACTGAGAAAATACAAGGAGCTGGACATCGAGCCT
Show »

>KIAA1530|57654|protein
MDQKLSKLVEELTTSGEPRLNPEKMKELKKICKSSEEQLSRAYRLLIAQLTQEHAEIRLSAFQIVEELFVRSHQFRMLVVSNFQEFLELTLGTDPAQPLPPPREA
AQRLRQATTRAVEGWNEKFGEAYKKLALGYHFLRHNKKVDFQDTNARSLAERKREEEKQKHLDKIYQERASQAEREMQEMSGEIESCLTEVESCFRLLVPFDFDP
NPETESLGMASGMSDALRSSCAGQVGPCRSGTPDPRDGEQPCCSRDLPASAGHPRAGGGAQPSQTATGDPSDEDEDSDLEEFVRSHGLGSHKYTLDVELCSEGLK
VQENEDNLALIHAARDTLKLIRNKFLPAVCSWIQRFTRVGTHGGCLKRAIDLKAELELVLRKYKELDIEPEGGERRRTEALGDAEEDEDDEDFVEVPEKEGYEPH
IPDHLRPEYGLEAAPEKDTVVRCLRTRTRMDEEVSDPTSAAAQLRQLRDHLPPPSSASPSRALPEPQEAQKLAAERARAPVVPYGVDLHYWGQELPTAGKIVKSD
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top